No abstract available.
Child* ; Humans

Glycogen storage diseases(GSD) are inherited disorders affecting glycogen metabolism and type I GSD is due to the absence or deficiency of glucose-6-phosphatase(G6Pase) enzyme in the liver, kidney, and intestinal mucosa. The defect leads to inadequate hepatic conversion of G6P to glucose and thus make affected individuals susceptible to fasting hypoglycemia, and the accumulation of glycogen occurs in the liver and other organs. Type Ia is the most common form of GSD and clinically growth retardation may manifest of GSD itself rather than growth hormone deficiency(GHD), but we experienced a case of type I GSD with GHD in a 14-year-o1d male. The height was 125 cm, compatible with 50 th percentile of height of 8 years of age. He has doll-like face with fat cheek, relatively thin extremities, and metabolic acidosis, hyperuricemia, hypoglycemia, hyperlipidemia. GH stimulation test with clonidine and L-dopa revealed that the patient had decreased GH secretion. After laboratory work up including liver biopsy, he was diagnosed as type I GSD. Hypoglycemia was managed with frequent feeding with high starch diet(uncooked cornstarch). Metabolic acidosis and hyperuricemia were treated with sodium bicarbonate, allopurinol and probenecid. The patient is being followed at out-patient clinic with clinical improvement after of diet therapy and GH administration.
Acidosis ; Allopurinol ; Biopsy ; Cheek ; Clonidine ; Diet Therapy ; Extremities ; Glucose ; Glycogen Storage Disease* ; Glycogen* ; Growth Hormone* ; Humans ; Hyperlipidemias ; Hyperuricemia ; Hypoglycemia ; Intestinal Mucosa ; Kidney ; Levodopa ; Liver ; Male ; Metabolism ; Outpatients ; Probenecid ; Sodium Bicarbonate ; Starch

No abstract available.
Hepatitis, Chronic* ; Interferon-alpha* ; Killer Cells, Natural* ; Prednisolone*

BACKGROUNDS: Obstructive sleep apnea syndrome(OSA) can divided into two groups, positional (PP) and non-positional(NPP) obstructive sleep apnea syndrome, according to the body position while sleeping. In this study, we evaluated the differences of anthropometirc data and polysomnographic recordings between the two types of sleep apnea syndrome. MATERIALS: Fifty patients with OSA were divided two groups by Cartwright's criteria. The supine respiratory disturbance index (RDI) was at least two times higher than the lateral RDI in the PP group, and the supine RDI was less than twice the lateral RDI in the NPP group. This patients underwent standardized polysomnographic recordings. The anthropometirc data and polysomnographic data were analyzed, statistically. RESULTS: Of all 50 patients, 30% were found to be positional OSA. BMI was significantly higher in the PP group(p<0.05). Total sleep time was significantly longer in the PP group (350.6±46.0min, p<0.05). Sleep efficiency was high in the PP group(89.6± 6.4%, 85.6±9.9%, p<0.05). Deep sleep was significantly higher and light sleep was lower in the PP group than in the NPP group but no difference was observed in REM sleep between the two groups. Apnea index(AI) and RDI were significantly lower(17.0±10.6, 28.5±13.3, p<0.05) and mean arterial oxygen saturation was higher in the PP group(92.7 ±1.8%, p<0.05) than in the NPP group. CONCLUSION: Body position during sleep has a profound effect on the frequency and severity of breathing abnormalities in OSA patients. A polysomnographic evaluation for suspected OSA patients must include monitoring of the body position. Breathing function in OSA patients can be improved by controlling their obesity and through postural therapy.
Apnea ; Humans ; Obesity ; Oxygen ; Polysomnography ; Respiration ; Sleep Apnea Syndromes ; Sleep Apnea, Obstructive* ; Sleep, REM

No abstract available.
Carcinoma, Squamous Cell* ; Lung Neoplasms* ; Lung* ; Small Cell Lung Carcinoma*

The clinical triad of relapsing iritis, ulcers of the mouth and genitalia was first described in 1939 by Hulusi Behcet. This entity, originally confined to the above triad of symptoms appears to be systemic disease manifested by skin lesion, thrombophlebitis, neurologic, cardiovascular or visceral symptoms. The vascular involvement in Behcet's syndrome has been reported since Mischima first described a case in 1961, four types of vascular lesion are freuqnetly observed most commonly on the inferior or superior vena cava. Treatments consist of anticoagulation and administering oral steroids. We report a case of SVC obstruction in 36 years old female patient with Behcet's syndrome.
Adult ; Behcet Syndrome* ; Female ; Genitalia ; Humans ; Iritis ; Mouth ; Skin ; Steroids ; Thrombophlebitis ; Ulcer ; Vena Cava, Superior

Mechanical obstruction of the common hepatic duct includes the following causes; choledocholithiasis, sclerosis, cholangitis, pancreatic carcinoma, cholangiocarcinoma, postoperative stricture, primary hepatic duct carcinoma, enlarged cystic duct lymph nodes, and metastatic nodal involvement of the porta hepatis. Partial mechanical obstruction of the common hepatic duct caused by impaction of stones and inflammation surrounding the vicinity of the neck of the gallbladder had been reported on the “syndrome del conducto hepatico” in 1948 by Mirizzi. Nowadays, this disease was named by Mirizzi syndrome. Mrizzi syndrome is a rare entity of common hepatic duct obstruction that results from an inflammatory response secondary to a gallstone impacted in the cystic duct or neck of the gallbladder. It results from an almost parallel course and low insertion of the cystic duct into the common hepatic duct. In a variant of Mirizzi's syndrome, the cause of the common hepatic duct obstruction was a primary cystic duct carcinoma rather than gallstone disease. A 71-year-old man was admitted with a four-day history of right upper quadrant abdominal pain. Past medical history was unremarkable. On physical examination, the patient had a temperature of 38℃, icteric sclera and right upper quadrant tenderness. Pertinent laboratory findings included WBC 18,000/cm3; albumin 2.6 g/dl (normal 0-1) with the direct bilirubin, 4.4 mg/dl (normal 0-0.4). Ultrasonography revealed a dilated extrahepatic biliary tree. ERCP showed that the superior margin was angular and more consistent with a calculus causing partial CHD obstruction (Mirizzi syndrome). At surgery a diseased gallbladder containing calculi was found. In addition, there was two calculi partially eroding through the proximal portion of the cystic duct and compressing the common hepatic duct. A cholecystectomy and excision of common bile duct was performed, with Roux-en-Y hepaticojejunostomy. The postoperative course was uneventful.
Abdominal Pain ; Aged ; Biliary Tract ; Bilirubin ; Calculi ; Cholangiocarcinoma ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis ; Cholecystectomy ; Choledocholithiasis ; Common Bile Duct ; Constriction, Pathologic ; Cystic Duct ; Cytochrome P-450 CYP1A1 ; Gallbladder ; Gallstones ; Hepatic Duct, Common ; Humans ; Inflammation ; Jaundice, Obstructive ; Lymph Nodes ; Mirizzi Syndrome* ; Neck ; Physical Examination ; Sclera ; Sclerosis ; Ultrasonography

BACKGROUND: The effects of chemotherapy on pulmonary function are mainly a reduced diffusion capacity and a restrictive ventilatory impairment. Exercise can expose cardiovascular and pulmonary abnormalities not evident at rest. Exercise related cardiopulmonary function is important in patients with malignant disease as a determinant of quality of life. We performed this study to evaluate the changes of body composition and cardiopulmonary exercise performance of patients with locally advanced, non-small cell, lung cancer (NSCLC) before and after chemotherapy. METHODS: We evaluated resting pulmonary function, body composition, physiologic performance status, and cardiopulmonary exercise function in 11 patients with locally advanced NSCLC, at diagnosis and prior to the fourth cycle of chemotherapy. RESULTS: After chemotherapy, 4 patients (36.4%) showed partial response and 7 (63.4%) had stable disease. After chemotherapy, diffusion capacity of the lung for carbon monoxide was reduced (89.7+/-34.1%, vs. 71.9+/-20.5%) but not significantly. There were no significant changes in body composition or the state of physiologic performance after chemotherapy. There was a significant impairment of cardiopulmonary exercise tolerance in patients with NSCLC, evidenced by a reduction of maximal oxygen uptake (VO2max, ml/kg/min, 17.9+/-2.6 : 12.6+/-6.1, <0.05) and O2 pulse (O2 pulse, ml/beat, 7.0+/-1.7, 5.2+/-2.1, <0.05). CONCLUSION: Systemic chemotherapy resulted in a loss of cardiopulmonary exercise function in patients with locally advanced NSCLC within the short-term period, but not a physiologic change of body composition within the same period.
Body Composition ; Carbon Monoxide ; Carcinoma, Non-Small-Cell Lung* ; Diagnosis ; Diffusion ; Drug Therapy* ; Exercise Test* ; Exercise Tolerance ; Humans ; Lung ; Lung Neoplasms ; Oxygen ; Quality of Life

PURPOSE: Although nodal metastasis is the most powerful prognostic factor in rectal cancer, marked heterogeneity exists within stage III rectal cancer. Recent studies of rectal cancer have shown a prognostic superiority of the lymph node ratio (LNR) compared with N stage. The purpose of this study was to investigate the prognostic value of the LNR in the era of the 7th edition of the TNM classification. METHODS: We included 190 patients who underwent a curative resection for rectal cancer with nodal metastasis. The patients were divided into four groups on the basis of statistically calculated cut-off values as 0.21, 0.32, and 0.61. RESULTS: The LNR was an independent risk factor for overall survival (OS; P = 0.008) and for systemic recurrence-free survival (SRFS; P = 0.002). However, the LNR was not a predictive factor for local recurrence. When the N stage of the sixth TNM staging system was separately analyzed as a covariate, the LNR was also found to be a predictive factor for both OS and SRFS (P = 0.012 and P = 0.004, respectively). A LNR value of 0.21 offered the best cut off to separate patients into two prognostic groups. CONCLUSION: The defined cut-off values of the LNR were an independent risk factor for OS and distant metastasis-free survival in patients with rectal cancer, irrespective of the sixth or the seventh version of the TNM classification, and the LNR should be considered as a prognostic variable in any future staging system.
Humans ; Lymph Nodes ; Neoplasm Metastasis ; Neoplasm Staging ; Population Characteristics ; Prognosis ; Rectal Neoplasms ; Recurrence ; Risk Factors

BACKGROUND: Weight loss is common in patients with chronic obstructive pulmonary disease (COPD). However, the mechanisms of this weight loss are still unclear. METHDOS: Sixty male patients with stable COPD and 45 healthy male controls participated in this study. The COPD patients were divided into two groups, that is, the emphysema and chronic bronchitis groups, by the transfer coefficient of carbon monoxide. The body composition, resting energy expenditure (REE), plasma leptin levels and serum tumor necrosis factor-alpha (TNF-alpha) were measured in all the study participants. The difference and correlation of these parameters were investigated between the two groups. RESULTS: Emphysematous patients were characterized by a lower body mass index (BMI) and fat-mass (FM) compared with the chronic bronchitis patients (p<0.001). The plasma leptin levels, as corrected for the FM, were not different between the COPD patients and healthy controls (78.3+/-30.9 pg/mL/kg vs. 70.9+/-17.3 pg/mL/kg, respectively), and the plasma leptin levels, as adjusted for the FM, were also not different between the two groups of COPD patients. In the chronic bronchitis patients, the plasma leptin concentration was correlated with the BMI (r=0.866, p<0.001) but it was not correlated with the BMI in the emphysema patients. The serum TNF-alpha levels were higher in the stable COPD patients than those in the controls, but there was no statistical difference (10.7+/-18.6 pg/mL vs. 7.2+/-3.5 pg/mL, respectively, p>0.05). The leptin concentration was well correlated with the BMI and %FM in the patients with chronic bronchitis and the leptin concentration was only correlated with the %FM (r=0.450, p=0.027) in emphysema patients. There was no correlation between the plasma leptin concentration, as adjusted for the fat mass, and the activity of the TNF-alpha system. CONCLUSION: The interaction of leptin and the activity of the TNF-alpha system in the pathogenesis of tissue depletion may not play an important role in chronic stable COPD patients.
Aged ; Body Composition ; Bronchitis, Chronic ; Case-Control Studies ; Emphysema ; Energy Metabolism ; Humans ; Leptin/*blood/physiology ; Male ; Middle Aged ; Pulmonary Disease, Chronic Obstructive/*physiopathology ; Respiratory Function Tests ; Tumor Necrosis Factor-alpha/*blood/physiology ; *Weight Loss